GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5751 - 5775 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:8283
  • peritonitis
  • Aliases:
    • Retractile mesenteritis
    • acute generalized peritonitis
    • primary bacterial peritonitis
    • sclerosing mesenteritis
Homo sapiens (human)
DOID:14219
  • renal tubular acidosis
Homo sapiens (human)
DOID:4606
  • bile duct cancer
  • Aliases:
    • Ca extrahepatic bile ducts
    • bile duct tumor
    • malignant neoplasm of the extrahepatic bile duct
Homo sapiens (human)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Homo sapiens (human)
DOID:0080543
  • hyperprolinemia type 2
  • Aliases:
    • hyperprolinemia type II
Homo sapiens (human)
DOID:0080768
  • pyridoxine-dependent epilepsy
Homo sapiens (human)
DOID:0110826
  • Usher syndrome type 1
  • Aliases:
    • US1
    • USH1
Homo sapiens (human)
DOID:0060744
  • Pendred Syndrome
  • Aliases:
    • TDH2B
    • congenital hypothyroidism due to dyshormonogenesis 2B
    • deafness with goiter
    • genetic defect in thyroid hormonogenesis 2B
    • goiter-deafness syndrome
    • thyroid dyshormonogenesis 2B
Homo sapiens (human)
DOID:12175
  • dyshormonogenic goiter
  • Aliases:
    • dyshormonogenic goitre
Homo sapiens (human)
DOID:0080422
  • Dravet syndrome
  • Aliases:
    • DEE6
    • DEE6A
    • developmental and epileptic encephalopathy 6
    • developmental and epileptic encephalopathy 6A
    • early infantile epileptic encephalopathy 6
    • severe myoclonic epilepsy of infancy
Homo sapiens (human)
DOID:0060171
  • obsolete Dravet syndrome
Homo sapiens (human)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:9263
  • homocystinuria
  • Aliases:
    • CBS deficiency
    • cystathionine beta synthase deficiency
    • cystathionine synthase deficiency
Homo sapiens (human)
DOID:0050439
  • Usher syndrome
Homo sapiens (human)
DOID:0050709
  • early infantile epileptic encephalopathy
  • Aliases:
    • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Homo sapiens (human)
DOID:308
  • early myoclonic encephalopathy
  • Aliases:
    • Epileptic seizures - myoclonic
    • Epileptic seizures, myoclonic
    • Myoclonic seizure
    • Myoclonic seizure disorder
    • myoclonia epileptica
    • myoclonic epilepsy
Homo sapiens (human)
DOID:9253
  • gastrointestinal stromal tumor
  • Aliases:
    • GANT
    • GIST
    • Stromal tumor of gastrointestinal tract
    • Stromal tumour of gastrointestinal tract
    • gastrointestinal stromal tumour
Homo sapiens (human)
DOID:14213
  • hypophosphatasia
  • Aliases:
    • deficiency of alkaline phosphatase
Homo sapiens (human)
DOID:11088
  • asphyxia neonatorum
  • Aliases:
    • Asphyxia - birth
    • Asphyxia, in liveborn infant
    • Birth asphyxia
    • postnatal asphyxia
Homo sapiens (human)
DOID:9252
  • amino acid metabolic disorder
  • Aliases:
    • inborn errors of amino acid metabolism
Homo sapiens (human)
DOID:0090058
  • torsion dystonia with onset in infancy
Homo sapiens (human)
DOID:0090038
  • torsion dystonia 2
Homo sapiens (human)
DOID:0090041
  • torsion dystonia 4
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Homo sapiens (human)
DOID:0090046
  • dystonia 21
Homo sapiens (human)

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024